TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features
(2016)
Journal Article
Balestrini, S., Milh, M., Castiglioni, C., Lüthy, K., Verstreken, P., Cardon, A., Stražišar, B. G., Holder, J. L., Lesca, G., Mancardi, M. M., Finelli, M. J., Poulat, A. L., Repetto, G. M., Banka, S., Bilo, L., Birkeland, L. E., Bosch, F., Brockmann, K., Cross, J. H., Doummar, D., …Sisodiya, S. (2016). TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features. Neurology, 87(1), 77-85. https://doi.org/10.1212/wnl.0000000000002807
Objective: To evaluate the phenotypic spectrum associated with mutations in TBC1D24.
Methods: We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various...
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